CHPF
Description
The CHPF (chondroitin polymerizing factor) is a protein-coding gene located on chromosome 2.
CHPF (Chondroitin sulfate synthase 2) is a human gene responsible for encoding an enzyme that plays a key role in the synthesis of chondroitin sulfate, a major component of cartilage. The gene's location and details can be found in the UCSC Genome Browser.
CHPF acts as a glycosyltransferase with dual activity, transferring both glucuronic acid (GlcUA) and N-acetylgalactosamine (GalNAc) to the chondroitin polymer during its elongation. This process involves utilizing UDP-GlcUA and UDP-GalNAc as donor substrates. Research suggests CHPF specifically activates CHSY1, promoting chondroitin polymerization (PubMed:12716890).
CHPF is also known as CHPF1, CHSY2, CSS2.
Associated Diseases
- Miyoshi myopathy
- Gollop-Wolfgang complex
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- fibular aplasia-ectrodactyly syndrome
- tibial hemimelia
- syndactyly type 4
- X-linked retinal dysplasia
- acheiropody
- acromesomelic dysplasia 2B
- spondyloepimetaphyseal dysplasia, Missouri type
